Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43090983G>ACA500122997BRCA1c.4146C>T (p.Cys1382=)
c.4020C>T (p.Cys1340=)
c.4143C>T (p.Cys1381=)
c.4068C>T (p.Cys1356=)
c.834C>T (p.Cys278=)
c.696C>T (p.Cys232=)
c.3258C>T (p.Cys1086=)
c.4023C>T (p.Cys1341=)
c.4005C>T (p.Cys1335=)
c.714C>T (p.Cys238=)
c.756C>T (p.Cys252=)
c.467C>T
c.720C>T (p.Cys240=)
c.*3929C>T (n.*3929C>T)
c.440C>T
c.837C>T (p.Cys279=)
c.459C>T (p.Cys153=)
c.462C>T (p.Cys154=)
c.5-27032C>T (n.5-27032C>T)
c.-43-16462C>T (n.-43-16462C>T)
c.-99+34288C>T (n.-99+34288C>T)
n.4282C>T
n.4323C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090983G>TCA10593429BRCA1c.4146C>A (p.Cys1382Ter)
c.4020C>A (p.Cys1340Ter)
c.4143C>A (p.Cys1381Ter)
c.4068C>A (p.Cys1356Ter)
c.834C>A (p.Cys278Ter)
c.696C>A (p.Cys232Ter)
c.3258C>A (p.Cys1086Ter)
c.4023C>A (p.Cys1341Ter)
c.4005C>A (p.Cys1335Ter)
c.714C>A (p.Cys238Ter)
c.756C>A (p.Cys252Ter)
c.467C>A
c.720C>A (p.Cys240Ter)
c.*3929C>A (n.*3929C>A)
c.440C>A
c.837C>A (p.Cys279Ter)
c.459C>A (p.Cys153Ter)
c.462C>A (p.Cys154Ter)
c.5-27032C>A (n.5-27032C>A)
c.-43-16462C>A (n.-43-16462C>A)
c.-99+34288C>A (n.-99+34288C>A)
n.4282C>A
n.4323C>A
 ClinVar dbSNP
17g.43090983G>CCA10593428BRCA1c.4146C>G (p.Cys1382Trp)
c.4020C>G (p.Cys1340Trp)
c.4143C>G (p.Cys1381Trp)
c.4068C>G (p.Cys1356Trp)
c.834C>G (p.Cys278Trp)
c.696C>G (p.Cys232Trp)
c.3258C>G (p.Cys1086Trp)
c.4023C>G (p.Cys1341Trp)
c.4005C>G (p.Cys1335Trp)
c.714C>G (p.Cys238Trp)
c.756C>G (p.Cys252Trp)
c.467C>G
c.720C>G (p.Cys240Trp)
c.*3929C>G (n.*3929C>G)
c.440C>G
c.837C>G (p.Cys279Trp)
c.459C>G (p.Cys153Trp)
c.462C>G (p.Cys154Trp)
c.5-27032C>G (n.5-27032C>G)
c.-43-16462C>G (n.-43-16462C>G)
c.-99+34288C>G (n.-99+34288C>G)
n.4282C>G
n.4323C>G
 dbSNP

Number of alleles fetched